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De novo variants in RNF213 are associated with a clinical spectrum ranging from Leigh syndrome to early-onset stroke by Brunet, Theresa (Author) , Zott, Benedikt (Author) , Lieftüchter, Victoria (Author) , Lenz, Dominic (Author) , Schmidt, Axel (Author) , Peters, Philipp (Author) , Kopajtich, Robert (Author) , Zaddach, Malin (Author) , Zimmermann, Hanna (Author) , Hüning, Irina (Author) , Ballhausen, Diana (Author) , Staufner, Christian (Author) , Bianzano, Alyssa (Author) , Hughes, Joanne (Author) , Taylor, Robert W. (Author) , McFarland, Robert (Author) , Devlin, Anita (Author) , Mihaljević, Mihaela (Author) , Barišić, Nina (Author) , Rohlfs, Meino (Author) , Wilfling, Sibylle (Author) , Sondheimer, Neal (Author) , Hewson, Stacy (Author) , Marinakis, Nikolaos M. (Author) , Kosma, Konstantina (Author) , Traeger-Synodinos, Joanne (Author) , Elbracht, Miriam (Author) , Begemann, Matthias (Author) , Trepels-Kottek, Sonja (Author) , Hasan, Dimah (Author) , Scala, Marcello (Author) , Capra, Valeria (Author) , Zara, Federico (Author) , van der Ven, Amelie T. (Author) , Driemeyer, Joenna (Author) , Apitz, Christian (Author) , Krämer, Johannes (Author) , Strong, Alanna (Author) , Hakonarson, Hakon (Author) , Watson, Deborah (Author) , Mayr, Johannes A. (Author) , Prokisch, Holger (Author) , Meitinger, Thomas (Author) , Borggraefe, Ingo (Author) , Spiegler, Juliane (Author) , Baric, Ivo (Author) , Paolini, Marco (Author) , Gerstl, Lucia (Author) , Wagner, Matias (Author) ,

• Verlag, lizenzpflichtig, Volltext
• Verlag, lizenzpflichtig, Volltext

Evidence that non-syndromic familial tall stature has an oligogenic origin including ciliary genes by Weiß, Birgit (Author) , Röth, Ralph (Author) , Hinderhofer, Katrin (Author) , Rappold, Gudrun (Author) ,

• Verlag, kostenfrei, Volltext
• Verlag, kostenfrei, Volltext

Tumor mutational burden and immune infiltration as independent predictors of response to neoadjuvant immune checkpoint inhibition in early TNBC in GeparNuevo by Karn, Thomas (Author) , Denkert, C. (Author) , Weber, K. E. (Author) , Holtrich, U. (Author) , Hanusch, C. (Author) , Sinn, B. V. (Author) , Higgs, B. W. (Author) , Jank, P. (Author) , Sinn, Peter (Author) , Huober, J. (Author) , Becker, C. (Author) , Blohmer, J. -U. (Author) , Marmé, Frederik (Author) , Schmitt, W. D. (Author) , Wu, S. (Author) , van Mackelenbergh, M. (Author) , Müller, V. (Author) , Schem, C. (Author) , Stickeler, E. (Author) , Fasching, P. A. (Author) , Jackisch, C. (Author) , Untch, M. (Author) , Schneeweiss, Andreas (Author) , Loibl, S. (Author) ,

• Verlag, lizenzpflichtig, Volltext
• Verlag, lizenzpflichtig, Volltext

Two cases of recessive intellectual disability caused by NDST1 and METTL23 variants by Khan, Amjad (Author) , Miao, Zhichao (Author) , Umair, Muhammad (Author) , Ullah, Amir (Author) , Alshabeeb, Mohammad A. (Author) , Bilal, Muhammad (Author) , Ahmad, Farooq (Author) , Rappold, Gudrun (Author) , Ansar, Muhammad (Author) , Carapito, Raphael (Author) ,

• Verlag, lizenzpflichtig, Volltext
• Verlag, lizenzpflichtig, Volltext

CASP9 germline mutation in a family with multiple brain tumors by Ronellenfitsch, Michael Wilfried (Author) , Steinbach, Joachim Peter (Author) , Felsberg, Jörg (Author) , Capper, David (Author) , Schittenhelm, Jens Florian (Author) , Klink, Barbara (Author) , Mittelbronn, Michel Guy André (Author) ,

• Verlag, Volltext
• Verlag, Volltext

Mutations in SULT2B1 cause autosomal-recessive congenital ichthyosis in humans by Heinz, Lisa (Author) , Haußer-Siller, Ingrid (Author) ,

• Verlag, kostenfrei, Volltext
• Verlag, kostenfrei, Volltext

DDX3X mutations in two girls with a phenotype overlapping Toriello-Carey syndrome by Dikow, Nicola (Author) , Granzow, Martin (Author) , Karch, Stephanie (Author) , Hinderhofer, Katrin (Author) , Paramasivam, Nagarajan (Author) , Kaufmann, Lilian (Author) , Fischer, Christine (Author) , Evers, Christina (Author) , Eils, Roland (Author) , Bartram, Claus R. (Author) , Moog, Ute (Author) ,

• Verlag, Volltext
• Verlag, Volltext

Findings made in gene panel to whole genome sequencing: data, knowledge, ethics - and consequences? by Winkler, Eva C. (Author) , Wiemann, Stefan (Author) ,

• Verlag, Volltext